Mutagenetix > Incidental Mutation

Incidental Mutation 'R7303:Lrguk'

567092

Institutional Source

Beutler Lab

Gene Symbol

Lrguk

Ensembl Gene

ENSMUSG00000056215

Gene Name

leucine-rich repeats and guanylate kinase domain containing

Synonyms

4921528H16Rik

MMRRC Submission

045364-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R7303 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34006379-34110969 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34006411 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 7 (N7I)

Ref Sequence

ENSEMBL: ENSMUSP00000065146 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070189] [ENSMUST00000101564] [ENSMUST00000228187]

AlphaFold

Q9D5S7

Predicted Effect

probably benign
Transcript: ENSMUST00000070189
AA Change: N7I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000065146
Gene: ENSMUSG00000056215
AA Change: N7I

Domain	Start	End	E-Value	Type
coiled coil region	75	113	N/A	INTRINSIC
LRR	148	170	2.69e2	SMART
LRR	236	258	1.86e2	SMART
LRR	279	301	1.99e0	SMART
LRR	326	349	1.58e2	SMART
GuKc	414	600	6.84e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000101564
AA Change: N7I

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000099100
Gene: ENSMUSG00000056215
AA Change: N7I

Domain	Start	End	E-Value	Type
coiled coil region	75	113	N/A	INTRINSIC
Pfam:LRR_1	150	170	9e-4	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000228187
AA Change: N7I

PolyPhen 2 Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	G	17: 24,617,495 (GRCm39)	L1064R	possibly damaging	Het
Abca7	A	T	10: 79,850,822 (GRCm39)	D2051V	probably benign	Het
Abcb5	T	A	12: 118,875,295 (GRCm39)	I626F	probably damaging	Het
Abcg5	A	G	17: 84,977,774 (GRCm39)	S333P	probably damaging	Het
Abl2	T	C	1: 156,468,820 (GRCm39)	S695P	probably benign	Het
Aen	C	T	7: 78,552,204 (GRCm39)	P55S	possibly damaging	Het
Afg3l1	G	T	8: 124,228,008 (GRCm39)	A598S	probably damaging	Het
Aldh16a1	A	T	7: 44,797,328 (GRCm39)	L160Q	probably damaging	Het
Ang	A	T	14: 51,338,973 (GRCm39)	H38L	probably benign	Het
Ankar	A	T	1: 72,698,192 (GRCm39)	I954N	probably benign	Het
Aox1	A	T	1: 58,373,924 (GRCm39)	K862*	probably null	Het
Brme1	G	C	8: 84,887,862 (GRCm39)	G71A	probably benign	Het
Cad	T	C	5: 31,217,557 (GRCm39)		probably null	Het
Cc2d2b	A	T	19: 40,797,438 (GRCm39)	Y740F	unknown	Het
Ccdc182	T	C	11: 88,185,042 (GRCm39)	Y41H	probably benign	Het
Chd9	A	G	8: 91,778,532 (GRCm39)	R2848G	unknown	Het
Chrna6	A	T	8: 27,897,019 (GRCm39)	L286*	probably null	Het
Cimap1d	G	A	10: 79,478,525 (GRCm39)	P80S	probably benign	Het
Cracr2b	A	G	7: 141,043,115 (GRCm39)		probably benign	Het
Fam184b	C	T	5: 45,699,568 (GRCm39)		probably null	Het
Flnc	T	C	6: 29,460,849 (GRCm39)	S2647P	probably benign	Het
Ftsj3	T	C	11: 106,145,506 (GRCm39)	D76G	probably damaging	Het
Fxyd1	T	A	7: 30,753,743 (GRCm39)	M17L	probably benign	Het
Golim4	G	A	3: 75,785,360 (GRCm39)	S677L	probably damaging	Het
Gpr149	A	G	3: 62,502,491 (GRCm39)	V455A	possibly damaging	Het
H2-Q1	C	A	17: 35,540,312 (GRCm39)	S132R	probably benign	Het
H2-Q7	A	G	17: 35,659,037 (GRCm39)	I163V	probably benign	Het
Herc1	A	T	9: 66,358,098 (GRCm39)	D2393V	possibly damaging	Het
Hmgb2	A	G	8: 57,965,762 (GRCm39)	K44E	possibly damaging	Het
Itgad	A	G	7: 127,789,351 (GRCm39)	D605G	probably benign	Het
Kbtbd12	G	T	6: 88,591,094 (GRCm39)	F16L	unknown	Het
Klhl23	T	C	2: 69,655,045 (GRCm39)	I305T	probably benign	Het
Lrp5	A	G	19: 3,641,774 (GRCm39)	L1396P	probably damaging	Het
Mapkapk5	T	C	5: 121,678,637 (GRCm39)	E13G	probably benign	Het
Mark3	T	C	12: 111,621,970 (GRCm39)	V704A	probably damaging	Het
Mast2	A	G	4: 116,165,508 (GRCm39)	S1303P	possibly damaging	Het
Mcm2	T	C	6: 88,864,928 (GRCm39)	D516G	probably damaging	Het
Mon2	A	T	10: 122,874,364 (GRCm39)		probably null	Het
Mrc2	T	A	11: 105,216,629 (GRCm39)	N139K	probably damaging	Het
Myh14	C	T	7: 44,261,125 (GRCm39)	E1789K	probably damaging	Het
Myh7b	T	A	2: 155,460,660 (GRCm39)	L271Q	probably damaging	Het
Oog2	A	T	4: 143,921,912 (GRCm39)	H274L	probably benign	Het
Oosp1	A	C	19: 11,645,774 (GRCm39)	S121R	probably benign	Het
Or13a28	T	C	7: 140,218,267 (GRCm39)	S218P	probably damaging	Het
Or8k3b	A	G	2: 86,521,166 (GRCm39)	V51A	probably benign	Het
Pepd	T	C	7: 34,721,197 (GRCm39)		probably null	Het
Pik3c2a	A	C	7: 116,005,178 (GRCm39)	S363R	probably benign	Het
Polr2b	T	C	5: 77,468,868 (GRCm39)	Y215H	probably benign	Het
Ppcdc	A	T	9: 57,321,958 (GRCm39)	V194E	probably benign	Het
Rabgap1l	A	C	1: 160,509,667 (GRCm39)	I470S	probably benign	Het
Scgb1b3	G	A	7: 31,075,383 (GRCm39)	A78T	probably benign	Het
Slc9a5	T	A	8: 106,083,345 (GRCm39)	L368Q	probably damaging	Het
Spef2	T	A	15: 9,647,576 (GRCm39)	I944F	possibly damaging	Het
Syne1	T	A	10: 5,206,805 (GRCm39)	H3461L	probably benign	Het
Tas2r134	A	G	2: 51,518,145 (GRCm39)	Y208C	probably benign	Het
Tasor	A	G	14: 27,193,809 (GRCm39)	E1003G	probably damaging	Het
Tm9sf3	G	A	19: 41,227,198 (GRCm39)	S291F	probably damaging	Het
Tra2a	G	A	6: 49,227,921 (GRCm39)	T69I	unknown	Het
Ube2q1	T	A	3: 89,683,898 (GRCm39)	L171Q	possibly damaging	Het
Ufd1	A	G	16: 18,636,715 (GRCm39)	T78A	probably damaging	Het
Vmn1r13	T	C	6: 57,187,587 (GRCm39)	S249P	probably damaging	Het
Wdr91	G	A	6: 34,861,258 (GRCm39)	S648L	probably benign	Het
Zfp51	T	A	17: 21,684,058 (GRCm39)	N224K	probably benign	Het

Other mutations in Lrguk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Lrguk	APN	6	34,020,364 (GRCm39)	missense	probably damaging	1.00
IGL00566:Lrguk	APN	6	34,033,109 (GRCm39)	missense	probably damaging	1.00
IGL01720:Lrguk	APN	6	34,020,412 (GRCm39)	missense	probably damaging	1.00
IGL02325:Lrguk	APN	6	34,106,114 (GRCm39)	missense	probably benign	0.31
IGL02484:Lrguk	APN	6	34,069,726 (GRCm39)	missense	probably damaging	1.00
IGL02493:Lrguk	APN	6	34,106,127 (GRCm39)	missense	probably benign	0.03
IGL02636:Lrguk	APN	6	34,067,123 (GRCm39)	missense	probably damaging	1.00
IGL03278:Lrguk	APN	6	34,093,381 (GRCm39)	missense	possibly damaging	0.80
R0031:Lrguk	UTSW	6	34,020,431 (GRCm39)	missense	probably damaging	0.99
R1069:Lrguk	UTSW	6	34,025,818 (GRCm39)	missense	possibly damaging	0.63
R1487:Lrguk	UTSW	6	34,039,295 (GRCm39)	missense	probably benign	0.01
R1568:Lrguk	UTSW	6	34,063,373 (GRCm39)	missense	probably damaging	1.00
R1604:Lrguk	UTSW	6	34,049,305 (GRCm39)	missense	possibly damaging	0.67
R1847:Lrguk	UTSW	6	34,110,322 (GRCm39)	missense	possibly damaging	0.52
R2045:Lrguk	UTSW	6	34,048,003 (GRCm39)	missense	probably damaging	1.00
R2107:Lrguk	UTSW	6	34,039,296 (GRCm39)	missense	probably benign	0.15
R2125:Lrguk	UTSW	6	34,069,837 (GRCm39)	missense	probably benign	0.05
R2136:Lrguk	UTSW	6	34,020,454 (GRCm39)	missense	probably benign	0.00
R2997:Lrguk	UTSW	6	34,050,697 (GRCm39)	missense	probably damaging	0.98
R3847:Lrguk	UTSW	6	34,050,703 (GRCm39)	missense	probably damaging	1.00
R3849:Lrguk	UTSW	6	34,050,703 (GRCm39)	missense	probably damaging	1.00
R4626:Lrguk	UTSW	6	34,106,158 (GRCm39)	missense	probably benign	0.00
R4718:Lrguk	UTSW	6	34,006,431 (GRCm39)	missense	probably benign	0.02
R4778:Lrguk	UTSW	6	34,033,015 (GRCm39)	missense	probably damaging	1.00
R4841:Lrguk	UTSW	6	34,069,802 (GRCm39)	missense	probably damaging	0.98
R5324:Lrguk	UTSW	6	34,050,732 (GRCm39)	missense	possibly damaging	0.87
R5450:Lrguk	UTSW	6	34,047,996 (GRCm39)	missense	probably damaging	1.00
R5741:Lrguk	UTSW	6	34,025,802 (GRCm39)	missense	probably damaging	0.99
R5939:Lrguk	UTSW	6	34,055,688 (GRCm39)	missense	probably damaging	1.00
R5997:Lrguk	UTSW	6	34,106,078 (GRCm39)	missense	probably damaging	0.99
R6786:Lrguk	UTSW	6	34,072,522 (GRCm39)	missense	probably benign	0.11
R6802:Lrguk	UTSW	6	34,039,392 (GRCm39)	missense	probably damaging	1.00
R7081:Lrguk	UTSW	6	34,079,074 (GRCm39)	missense	probably benign	0.01
R7316:Lrguk	UTSW	6	34,080,191 (GRCm39)	missense	unknown
R7473:Lrguk	UTSW	6	34,006,630 (GRCm39)	missense	probably benign	0.01
R7543:Lrguk	UTSW	6	34,025,870 (GRCm39)	nonsense	probably null
R7613:Lrguk	UTSW	6	34,078,683 (GRCm39)	missense	possibly damaging	0.68
R7716:Lrguk	UTSW	6	34,072,474 (GRCm39)	missense	probably damaging	1.00
R7900:Lrguk	UTSW	6	34,106,129 (GRCm39)	missense	probably benign	0.01
R8012:Lrguk	UTSW	6	34,033,038 (GRCm39)	missense	probably benign	0.00
R8251:Lrguk	UTSW	6	34,093,374 (GRCm39)	missense	probably benign	0.00
R8324:Lrguk	UTSW	6	34,079,506 (GRCm39)	missense	probably benign	0.03
R8551:Lrguk	UTSW	6	34,093,446 (GRCm39)	missense	probably damaging	0.96
R8828:Lrguk	UTSW	6	34,080,572 (GRCm39)	missense	unknown
R8879:Lrguk	UTSW	6	34,006,618 (GRCm39)	missense	probably benign	0.00
X0057:Lrguk	UTSW	6	34,055,682 (GRCm39)	missense	probably benign	0.40

Predicted Primers

PCR Primer
(F):5'- CTAGCCACTGAACGTAAAGAGG -3'
(R):5'- GGCACACCTCCAAATTCTGC -3'

Sequencing Primer
(F):5'- GAAAATAAAAGAAGCAGCAGAACGC -3'
(R):5'- TTCTGCCTCATGAGAGCGG -3'

Posted On

2019-06-26